SNP Links for Gene (Select 102723833) - SNP

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Select item 14909868681.

rs1490986868 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:216084795 (GRCh38)
1:216258137 (GRCh37)
Canonical SPDI:: NC_000001.11:216084794:A:C,NC_000001.11:216084794:A:G
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.216084795A>C, NC_000001.11:g.216084795A>G, NC_000001.10:g.216258137A>C, NC_000001.10:g.216258137A>G, NG_009497.2:g.343654T>G, NG_009497.2:g.343654T>C, NM_206933.4:c.5070T>G, NM_206933.4:c.5070T>C, NM_206933.3:c.5070T>G, NM_206933.3:c.5070T>C, NM_206933.2:c.5070T>G, NM_206933.2:c.5070T>C

Select item 14908344902.

rs1490834490 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:216070739 (GRCh38)
1:216244081 (GRCh37)
Canonical SPDI:: NC_000001.11:216070738:G:A,NC_000001.11:216070738:G:T
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0031/14 (ALFA)
T=0.0188/55 (KOREAN)
HGVS:: NC_000001.11:g.216070739G>A, NC_000001.11:g.216070739G>T, NC_000001.10:g.216244081G>A, NC_000001.10:g.216244081G>T, NG_009497.2:g.357710C>T, NG_009497.2:g.357710C>A

Select item 14906001143.

rs1490600114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:216073728 (GRCh38)
1:216247070 (GRCh37)
Canonical SPDI:: NC_000001.11:216073727:A:G
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.216073728A>G, NC_000001.10:g.216247070A>G, NG_009497.2:g.354721T>C

Select item 14904150784.

rs1490415078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:216074211 (GRCh38)
1:216247553 (GRCh37)
Canonical SPDI:: NC_000001.11:216074210:G:A
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.216074211G>A, NC_000001.10:g.216247553G>A, NG_009497.2:g.354238C>T

Select item 14903879165.

rs1490387916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:216075325 (GRCh38)
1:216248667 (GRCh37)
Canonical SPDI:: NC_000001.11:216075324:C:G,NC_000001.11:216075324:C:T
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.216075325C>G, NC_000001.11:g.216075325C>T, NC_000001.10:g.216248667C>G, NC_000001.10:g.216248667C>T, NG_009497.2:g.353124G>C, NG_009497.2:g.353124G>A

Select item 14903204076.

rs1490320407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:216076980 (GRCh38)
1:216250322 (GRCh37)
Canonical SPDI:: NC_000001.11:216076979:G:A
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.216076980G>A, NC_000001.10:g.216250322G>A, NG_009497.2:g.351469C>T

Select item 14898854437.

rs1489885443 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:216084962 (GRCh38)
1:216258305 (GRCh37)
Canonical SPDI:: NC_000001.11:216084962:AAA:AAAA
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.216084965dup, NC_000001.10:g.216258307dup, NG_009497.2:g.343486dup

Select item 14896978048.

rs1489697804 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTATAA [Show Flanks]
Chromosome:: 1:216085369 (GRCh38)
1:216258712 (GRCh37)
Canonical SPDI:: NC_000001.11:216085369::TTATAA
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: TTATAA=0.000014/2 (GnomAD)
TTATAA=0.000312/2 (1000Genomes)
HGVS:: NC_000001.11:g.216085369_216085370insTTATAA, NC_000001.10:g.216258711_216258712insTTATAA, NG_009497.2:g.343079_343080insTTATAA

Select item 14895969799.

rs1489596979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:216074586 (GRCh38)
1:216247928 (GRCh37)
Canonical SPDI:: NC_000001.11:216074585:A:C,NC_000001.11:216074585:A:G
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.216074586A>C, NC_000001.11:g.216074586A>G, NC_000001.10:g.216247928A>C, NC_000001.10:g.216247928A>G, NG_009497.2:g.353863T>G, NG_009497.2:g.353863T>C

Select item 148954790710.

rs1489547907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:216086518 (GRCh38)
1:216259860 (GRCh37)
Canonical SPDI:: NC_000001.11:216086517:C:T
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.216086518C>T, NC_000001.10:g.216259860C>T, NG_009497.2:g.341931G>A

Select item 148952891811.

rs1489528918 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:216079754 (GRCh38)
1:216253096 (GRCh37)
Canonical SPDI:: NC_000001.11:216079753:A:G
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.216079754A>G, NC_000001.10:g.216253096A>G, NG_009497.2:g.348695T>C

Select item 148943042012.

rs1489430420 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:216084840 (GRCh38)
1:216258182 (GRCh37)
Canonical SPDI:: NC_000001.11:216084839:A:C
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.216084840A>C, NC_000001.10:g.216258182A>C, NG_009497.2:g.343609T>G, NM_206933.4:c.5025T>G, NM_206933.3:c.5025T>G, NM_206933.2:c.5025T>G, NP_996816.3:p.Asp1675Glu

Select item 148901252113.

rs1489012521 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:216085630 (GRCh38)
1:216258972 (GRCh37)
Canonical SPDI:: NC_000001.11:216085629:C:T
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.216085630C>T, NC_000001.10:g.216258972C>T, NG_009497.2:g.342819G>A

Select item 148894009314.

rs1488940093 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:216076007 (GRCh38)
1:216249349 (GRCh37)
Canonical SPDI:: NC_000001.11:216076006:A:C,NC_000001.11:216076006:A:G
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00022/1 (Estonian)
HGVS:: NC_000001.11:g.216076007A>C, NC_000001.11:g.216076007A>G, NC_000001.10:g.216249349A>C, NC_000001.10:g.216249349A>G, NG_009497.2:g.352442T>G, NG_009497.2:g.352442T>C

Select item 148868091115.

rs1488680911 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:216072353 (GRCh38)
1:216245695 (GRCh37)
Canonical SPDI:: NC_000001.11:216072352:T:C
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.216072353T>C, NC_000001.10:g.216245695T>C, NG_009497.2:g.356096A>G

Select item 148808857016.

rs1488088570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:216082407 (GRCh38)
1:216255749 (GRCh37)
Canonical SPDI:: NC_000001.11:216082406:G:A
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.216082407G>A, NC_000001.10:g.216255749G>A, NG_009497.2:g.346042C>T

Select item 148785935417.

rs1487859354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:216070566 (GRCh38)
1:216243908 (GRCh37)
Canonical SPDI:: NC_000001.11:216070565:G:A
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.216070566G>A, NC_000001.10:g.216243908G>A, NG_009497.2:g.357883C>T

Select item 148761021618.

rs1487610216 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:216077856 (GRCh38)
1:216251198 (GRCh37)
Canonical SPDI:: NC_000001.11:216077855:A:G
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.216077856A>G, NC_000001.10:g.216251198A>G, NG_009497.2:g.350593T>C

Select item 148757907019.

rs1487579070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:216084863 (GRCh38)
1:216258205 (GRCh37)
Canonical SPDI:: NC_000001.11:216084862:C:T
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.216084863C>T, NC_000001.10:g.216258205C>T, NG_009497.2:g.343586G>A, NM_206933.4:c.5002G>A, NM_206933.3:c.5002G>A, NM_206933.2:c.5002G>A, NP_996816.3:p.Gly1668Ser

Select item 148752423520.

rs1487524235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:216086022 (GRCh38)
1:216259364 (GRCh37)
Canonical SPDI:: NC_000001.11:216086021:T:C
Gene:: USH2A (Varview), USH2A-AS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.216086022T>C, NC_000001.10:g.216259364T>C, NG_009497.2:g.342427A>G

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